Linked Data
ClinVar Variation Id:
287585
dbSNP Id:
rs369633003
ExAC:
2:62054316 T / C
gnomAD v2:
2-62054316-T-C
gnomAD v3:
2-61827181-T-C
gnomAD v4:
2-61827181-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61827181T>C , CM000664.2:g.61827181T>C | GRCh38 |
| NC_000002.11:g.62054316T>C , CM000664.1:g.62054316T>C | GRCh37 |
| NC_000002.10:g.61907820T>C | NCBI36 |
| NG_028125.1:g.31963A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1929A>G MANE Select | ENSP00000385158.1:p.Ser643= | |
| ENST00000404929.5:c.1929A>G | ENSP00000385158.1:p.Ser643= | |
| ENST00000405894.3:c.1761A>G | ENSP00000385893.3:p.Ser587= | |
| ENST00000418113.5:c.2206A>G | ||
| ENST00000456262.5:c.*1276A>G | ENSP00000396105.1:n.*1276A>G | |
| ENST00000478494.1:n.553A>G | ||
| NM_001201543.1:c.1929A>G | NP_001188472.1:p.Ser643= | |
| NM_032180.2:c.1761A>G | NP_115556.2:p.Ser587= | |
| NR_037710.1:n.1807A>G | ||
| XR_939724.1:n.3290A>G | ||
| XM_017005072.1:c.1434A>G | XP_016860561.1:p.Ser478= | |
| XM_017005073.1:c.1359A>G | XP_016860562.1:p.Ser453= | |
| XM_017005074.1:c.1191A>G | XP_016860563.1:p.Ser397= | |
| XR_001738972.2:n.1930A>G | ||
| XR_001738973.2:n.1762A>G | ||
| XR_001738974.2:n.1930A>G | ||
| XR_001738976.1:n.1958A>G | ||
| XR_001738977.1:n.1790A>G | ||
| NM_001201543.2:c.1929A>G MANE Select | NP_001188472.1:p.Ser643= | |
| NM_032180.3:c.1761A>G | NP_115556.2:p.Ser587= | |
| NR_037710.2:n.1724A>G |